Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs119103286
rs119103286
TTC8
5 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
dbSNP: rs539612316
rs539612316
ALMS1
4 0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs730882201
rs730882201
ARL14EP
4 1.000 11 30336665 missense variant G/A snv 0.700 0